MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000355995
Querying Taster for transcript #2: ENST00000627217
Querying Taster for transcript #3: ENST00000277945
Querying Taster for transcript #4: ENST00000534894
Querying Taster for transcript #5: ENST00000369397
Querying Taster for transcript #6: ENST00000352065
Querying Taster for transcript #7: ENST00000545257
Querying Taster for transcript #8: ENST00000704414
Querying Taster for transcript #9: ENST00000369395
Querying Taster for transcript #10: ENST00000538897
Querying Taster for transcript #11: ENST00000355717
Querying Taster for transcript #12: ENST00000629706
MT speed 0.2 s - this script 2.644846 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000355995(MANE Select)	TCF7L2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000627217	TCF7L2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000277945	TCF7L2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000534894	TCF7L2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000369397	TCF7L2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000352065	TCF7L2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000545257	TCF7L2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000704414	TCF7L2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000369395	TCF7L2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000538897	TCF7L2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000355717	TCF7L2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000629706	TCF7L2	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

10:112999020G>T_1_ENST00000355995

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:112999020G>T (GRCh38)

Gene symbol

TCF7L2

Gene constraints

LOEUF: 0.46, LOF (oe): 0.33, misssense (oe): 0.82, synonymous (oe): 1.21 ? (gnomAD)

Ensembl transcript ID

ENST00000355995.9

Genbank transcript ID

NM_001367943 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.450+34396G>T
g.48774G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4267006
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2507	19401	21908

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.184	0.001
	-0.724	0.001
(flanking)	0.308	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

1

Original gDNA sequence snippet

AGACTTTCCTATTAAAAAAAGTATTTTATTTTTCAGAGACA

Altered gDNA sequence snippet

AGACTTTCCTATTAAAAAAATTATTTTATTTTTCAGAGACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPQLNGGGGD DLGANDELIS FKDEGEQEEK SSENSSAERD LADVKSSLVN ESETNQNSSS
DSEAERRPPP RSESFRDKSR ESLEEAAKRQ DGGLFKGPPY PGYPFIMIPD LTSPYLPNGS
LSPTARTLHF QSGSTHYSAY KTIEHQIAVQ YLQMKWPLLD VQAGSLQSRQ ALKDARSPSP
AHIVSNKVPV VQHPHHVHPL TPLITYSNEH FTPGNPPPHL PADVDPKTGI PRPPHPPDIS
PYYPLSPGTV GQIPHPLGWL VPQQGQPVYP ITTGGFRHPY PTALTVNASM SRFPPHMVPP
HHTLHTTGIP HPAIVTPTVK QESSQSDVGS LHSSKHQDSK KEEEKKKPHI KKPLNAFMLY
MKEMRAKVVA ECTLKESAAI NQILGRRWHA LSREEQAKYY ELARKERQLH MQLYPGWSAR
DNYGKKKKRK RDKQPGETNE HSECFLNPCL SLPPITDLSA PKKCRARFGL DQQNNWCGPC
RRKKKCVRYI QGEGSCLSPP SSDGSLLDSP PPSPNLLGSP PRDAKSQTEQ TQPLSLSLKP
DPLAHLSMMP PPPALLLAEA THKASALCPN GALDLPPAAL QPAAPSSSIA QPSTSSLHSH
SSLAGTQPQP LSLVTKSLE*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

511 / 511

Last intron/exon boundary

1952

Theoretical NMD boundary in CDS

1391

Length of CDS

1860

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

48774

Chromosomal position

112999020

Speed

0.04 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

10:112999020G>T_2_ENST00000627217

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:112999020G>T (GRCh38)

Gene symbol

TCF7L2

Gene constraints

LOEUF: 0.47, LOF (oe): 0.33, misssense (oe): 0.86, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000627217.3

Genbank transcript ID

NM_001146274 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.450+34396G>T
g.48774G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4267006
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2507	19401	21908

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.184	0.001
	-0.724	0.001
(flanking)	0.308	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

1

Original gDNA sequence snippet

AGACTTTCCTATTAAAAAAAGTATTTTATTTTTCAGAGACA

Altered gDNA sequence snippet

AGACTTTCCTATTAAAAAAATTATTTTATTTTTCAGAGACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPQLNGGGGD DLGANDELIS FKDEGEQEEK SSENSSAERD LADVKSSLVN ESETNQNSSS
DSEAERRPPP RSESFRDKSR ESLEEAAKRQ DGGLFKGPPY PGYPFIMIPD LTSPYLPNGS
LSPTARTLHF QSGSTHYSAY KTIEHQIAVQ YLQMKWPLLD VQAGSLQSRQ ALKDARSPSP
AHIVSNKVPV VQHPHHVHPL TPLITYSNEH FTPGNPPPHL PADVDPKTGI PRPPHPPDIS
PYYPLSPGTV GQIPHPLGWL VPQQGQPVYP ITTGGFRHPY PTALTVNASM SRFPPHMVPP
HHTLHTTGIP HPAIVTPTVK QESSQSDVGS LHSSKHQDSK KEEEKKKPHI KKPLNAFMLY
MKEMRAKVVA ECTLKESAAI NQILGRRWHA LSREEQAKYY ELARKERQLH MQLYPGWSAR
DNYGKKKKRK RDKQPGETND ANTPKKCRAL FGLDRQTLWC KPCRRKKKCV RYIQGEGSCL
SPPSSDGSLL DSPPPSPNLL GSPPRDAKSQ TEQTQPLSLS LKPDPLAHLS MMPPPPALLL
AEATHKASAL CPNGALDLPP AALQPAAPSS SIAQPSTSSL HSHSSLAGTQ PQPLSLVTKS
LE*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

511 / 511

Last intron/exon boundary

1901

Theoretical NMD boundary in CDS

1340

Length of CDS

1809

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

48774

Chromosomal position

112999020

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

10:112999020G>T_3_ENST00000277945

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:112999020G>T (GRCh38)

Gene symbol

TCF7L2

Gene constraints

LOEUF: 0.27, LOF (oe): 0.12, misssense (oe): 0.54, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000277945.12

Genbank transcript ID

NM_001146285 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.382-41005G>T
g.48774G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4267006
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2507	19401	21908

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.184	0.001
	-0.724	0.001
(flanking)	0.308	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

1

Original gDNA sequence snippet

AGACTTTCCTATTAAAAAAAGTATTTTATTTTTCAGAGACA

Altered gDNA sequence snippet

AGACTTTCCTATTAAAAAAATTATTTTATTTTTCAGAGACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPQLNGGGGD DLGANDELIS FKDEGEQEEK SSENSSAERD LADVKSSLVN ESETNQNSSS
DSEAERRPPP RSESFRDKSR ESLEEAAKRQ DGGLFKGPPY PGYPFIMIPD LTSPYLPNGS
LSPTARTYLQ MKWPLLDVQA GSLQSRQALK DARSPSPAHI VSNKVPVVQH PHHVHPLTPL
ITYSNEHFTP GNPPPHLPAD VDPKTGIPRP PHPPDISPYY PLSPGTVGQI PHPLGWLVPQ
QGQPVYPITT GGFRHPYPTA LTVNASMSRF PPHMVPPHHT LHTTGIPHPA IVTPTVKQES
SQSDVGSLHS SKHQDSKKEE EKKKPHIKKP LNAFMLYMKE MRAKVVAECT LKESAAINQI
LGRRWHALSR EEQAKYYELA RKERQLHMQL YPGWSARDNY GKKKKRKRDK QPGETNDLSA
PKKCRARFGL DQQNNWCGPC RRKKKCVRYI QGEGSCLSPP SSDGSLLDSP PPSPNLLGSP
PRDAKSQTEQ TQPLSLSLKP DPLAHLSMMP PPPALLLAEA THKASALCPN GALDLPPAAL
QPAAPSSSIA QPSTSSLHSH SSLAGTQPQP LSLVTKSLE*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

508 / 508

Last intron/exon boundary

1829

Theoretical NMD boundary in CDS

1271

Length of CDS

1740

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

48774

Chromosomal position

112999020

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

10:112999020G>T_4_ENST00000534894

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:112999020G>T (GRCh38)

Gene symbol

TCF7L2

Gene constraints

LOEUF: 0.25, LOF (oe): 0.13, misssense (oe): 0.71, synonymous (oe): 1.16 ? (gnomAD)

Ensembl transcript ID

ENST00000534894.5

Genbank transcript ID

NM_001198530 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.381+47413G>T
g.48774G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4267006
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2507	19401	21908

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.184	0.001
	-0.724	0.001
(flanking)	0.308	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

1

Original gDNA sequence snippet

AGACTTTCCTATTAAAAAAAGTATTTTATTTTTCAGAGACA

Altered gDNA sequence snippet

AGACTTTCCTATTAAAAAAATTATTTTATTTTTCAGAGACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPQLNGGGGD DLGANDELIS FKDEGEQEEK SSENSSAERD LADVKSSLVN ESETNQNSSS
DSEAERRPPP RSESFRDKSR ESLEEAAKRQ DGGLFKGPPY PGYPFIMIPD LTSPYLPNGS
LSPTARTSNK VPVVQHPHHV HPLTPLITYS NEHFTPGNPP PHLPADVDPK TGIPRPPHPP
DISPYYPLSP GTVGQIPHPL GWLVPQQGQP VYPITTGGFR HPYPTALTVN ASMSRFPPHM
VPPHHTLHTT GIPHPAIVTP TVKQESSQSD VGSLHSSKHQ DSKKEEEKKK PHIKKPLNAF
MLYMKEMRAK VVAECTLKES AAINQILGRR WHALSREEQA KYYELARKER QLHMQLYPGW
SARDNYGKKK KRKRDKQPGE TNGEKKSAFA TYKVKAAASA HPLQMEAY*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

508 / 508

Last intron/exon boundary

1654

Theoretical NMD boundary in CDS

1096

Length of CDS

1227

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

48774

Chromosomal position

112999020

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

10:112999020G>T_5_ENST00000369397

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:112999020G>T (GRCh38)

Gene symbol

TCF7L2

Gene constraints

LOEUF: 0.38, LOF (oe): 0.25, misssense (oe): 0.82, synonymous (oe): 1.22 ? (gnomAD)

Ensembl transcript ID

ENST00000369397.8

Genbank transcript ID

NM_030756 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.382-41005G>T
g.48774G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4267006
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2507	19401	21908

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.184	0.001
	-0.724	0.001
(flanking)	0.308	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

1

Original gDNA sequence snippet

AGACTTTCCTATTAAAAAAAGTATTTTATTTTTCAGAGACA

Altered gDNA sequence snippet

AGACTTTCCTATTAAAAAAATTATTTTATTTTTCAGAGACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPQLNGGGGD DLGANDELIS FKDEGEQEEK SSENSSAERD LADVKSSLVN ESETNQNSSS
DSEAERRPPP RSESFRDKSR ESLEEAAKRQ DGGLFKGPPY PGYPFIMIPD LTSPYLPNGS
LSPTARTYLQ MKWPLLDVQA GSLQSRQALK DARSPSPAHI VSNKVPVVQH PHHVHPLTPL
ITYSNEHFTP GNPPPHLPAD VDPKTGIPRP PHPPDISPYY PLSPGTVGQI PHPLGWLVPQ
QGQPVYPITT GGFRHPYPTA LTVNASMSRF PPHMVPPHHT LHTTGIPHPA IVTPTVKQES
SQSDVGSLHS SKHQDSKKEE EKKKPHIKKP LNAFMLYMKE MRAKVVAECT LKESAAINQI
LGRRWHALSR EEQAKYYELA RKERQLHMQL YPGWSARDNY GKKKKRKRDK QPGETNEHSE
CFLNPCLSLP PITDLSAPKK CRARFGLDQQ NNWCGPCRRK KKCVRYIQGE GSCLSPPSSD
GSLLDSPPPS PNLLGSPPRD AKSQTEQTQP LSLSLKPDPL AHLSMMPPPP ALLLAEATHK
ASALCPNGAL DLPPAALQPA APSSSIAQPS TSSLHSHSSL AGTQPQPLSL VTKSLE*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

306 / 306

Last intron/exon boundary

1678

Theoretical NMD boundary in CDS

1322

Length of CDS

1791

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

48774

Chromosomal position

112999020

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

10:112999020G>T_6_ENST00000352065

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:112999020G>T (GRCh38)

Gene symbol

TCF7L2

Gene constraints

LOEUF: 0.27, LOF (oe): 0.16, misssense (oe): 0.66, synonymous (oe): 1.10 ? (gnomAD)

Ensembl transcript ID

ENST00000352065.10

Genbank transcript ID

NM_001198528 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.382-41005G>T
g.48774G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4267006
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2507	19401	21908

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.184	0.001
	-0.724	0.001
(flanking)	0.308	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

1

Original gDNA sequence snippet

AGACTTTCCTATTAAAAAAAGTATTTTATTTTTCAGAGACA

Altered gDNA sequence snippet

AGACTTTCCTATTAAAAAAATTATTTTATTTTTCAGAGACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPQLNGGGGD DLGANDELIS FKDEGEQEEK SSENSSAERD LADVKSSLVN ESETNQNSSS
DSEAERRPPP RSESFRDKSR ESLEEAAKRQ DGGLFKGPPY PGYPFIMIPD LTSPYLPNGS
LSPTARTYLQ MKWPLLDVQA GSLQSRQALK DARSPSPAHI VSNKVPVVQH PHHVHPLTPL
ITYSNEHFTP GNPPPHLPAD VDPKTGIPRP PHPPDISPYY PLSPGTVGQI PHPLGWLVPQ
QGQPVYPITT GGFRHPYPTA LTVNASMSRF PPHMVPPHHT LHTTGIPHPA IVTPTVKQES
SQSDVGSLHS SKHQDSKKEE EKKKPHIKKP LNAFMLYMKE MRAKVVAECT LKESAAINQI
LGRRWHALSR EEQAKYYELA RKERQLHMQL YPGWSARDNY GKKKKRKRDK QPGETNEHSE
CFLNPCLSLP PITDLSAPKK CRARFGLDQQ NNWCGPCSL*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

98 / 98

Last intron/exon boundary

1495

Theoretical NMD boundary in CDS

1347

Length of CDS

1380

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

48774

Chromosomal position

112999020

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

10:112999020G>T_7_ENST00000545257

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:112999020G>T (GRCh38)

Gene symbol

TCF7L2

Gene constraints

LOEUF: 0.27, LOF (oe): 0.16, misssense (oe): 0.67, synonymous (oe): 1.11 ? (gnomAD)

Ensembl transcript ID

ENST00000545257.6

Genbank transcript ID

NM_001198525 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.382-41005G>T
g.48774G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4267006
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2507	19401	21908

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.184	0.001
	-0.724	0.001
(flanking)	0.308	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

1

Original gDNA sequence snippet

AGACTTTCCTATTAAAAAAAGTATTTTATTTTTCAGAGACA

Altered gDNA sequence snippet

AGACTTTCCTATTAAAAAAATTATTTTATTTTTCAGAGACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPQLNGGGGD DLGANDELIS FKDEGEQEEK SSENSSAERD LADVKSSLVN ESETNQNSSS
DSEAERRPPP RSESFRDKSR ESLEEAAKRQ DGGLFKGPPY PGYPFIMIPD LTSPYLPNGS
LSPTARTYLQ MKWPLLDVQA GSLQSRQALK DARSPSPAHI VSNKVPVVQH PHHVHPLTPL
ITYSNEHFTP GNPPPHLPAD VDPKTGIPRP PHPPDISPYY PLSPGTVGQI PHPLGWLVPQ
QGQPVYPITT GGFRHPYPTA LTVNASMSSF LSSRFPPHMV PPHHTLHTTG IPHPAIVTPT
VKQESSQSDV GSLHSSKHQD SKKEEEKKKP HIKKPLNAFM LYMKEMRAKV VAECTLKESA
AINQILGRRW HALSREEQAK YYELARKERQ LHMQLYPGWS ARDNYGKKKK RKRDKQPGET
NEHSECFLNP CLSLPPITDL SAPKKCRARF GLDQQNNWCG PCRCKYSKEV SGTVRA*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

94 / 94

Last intron/exon boundary

1554

Theoretical NMD boundary in CDS

1410

Length of CDS

1431

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

48774

Chromosomal position

112999020

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

10:112999020G>T_8_ENST00000704414

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Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:112999020G>T (GRCh38)

Gene symbol

TCF7L2

Gene constraints

no data

Ensembl transcript ID

ENST00000704414.1

Genbank transcript ID

NM_001198529 (by similarity), NM_001146284 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.382-41005G>T
g.48774G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4267006
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2507	19401	21908

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.184	0.001
	-0.724	0.001
(flanking)	0.308	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

1

Original gDNA sequence snippet

AGACTTTCCTATTAAAAAAAGTATTTTATTTTTCAGAGACA

Altered gDNA sequence snippet

AGACTTTCCTATTAAAAAAATTATTTTATTTTTCAGAGACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPQLNGGGGD DLGANDELIS FKDEGEQEEK SSENSSAERD LADVKSSLVN ESETNQNSSS
DSEAERRPPP RSESFRDKSR ESLEEAAKRQ DGGLFKGPPY PGYPFIMIPD LTSPYLPNGS
LSPTARTYLQ MKWPLLDVQA GSLQSRQALK DARSPSPAHI VSNKVPVVQH PHHVHPLTPL
ITYSNEHFTP GNPPPHLPAD VDPKTGIPRP PHPPDISPYY PLSPGTVGQI PHPLGWLVPQ
QGQPVYPITT GGFRHPYPTA LTVNASMSRF PPHMVPPHHT LHTTGIPHPA IVTPTVKQES
SQSDVGSLHS SKHQDSKKEE EKKKPHIKKP LNAFMLYMKE MRAKVVAECT LKESAAINQI
LGRRWHALSR EEQAKYYELA RKERQLHMQL YPGWSARDNY GKKKKRKRDK QPGETNEHSE
CFLNPCLSLP PITGEKKSAF ATYKVKAAAS AHPLQMEAY*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

1300

Theoretical NMD boundary in CDS

1249

Length of CDS

1380

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

48774

Chromosomal position

112999020

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

10:112999020G>T_9_ENST00000369395

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:112999020G>T (GRCh38)

Gene symbol

TCF7L2

Gene constraints

LOEUF: 0.28, LOF (oe): 0.16, misssense (oe): 0.67, synonymous (oe): 1.11 ? (gnomAD)

Ensembl transcript ID

ENST00000369395.6

Genbank transcript ID

NM_001198527 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.382-41005G>T
g.48774G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4267006
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2507	19401	21908

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.184	0.001
	-0.724	0.001
(flanking)	0.308	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

1

Original gDNA sequence snippet

AGACTTTCCTATTAAAAAAAGTATTTTATTTTTCAGAGACA

Altered gDNA sequence snippet

AGACTTTCCTATTAAAAAAATTATTTTATTTTTCAGAGACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPQLNGGGGD DLGANDELIS FKDEGEQEEK SSENSSAERD LADVKSSLVN ESETNQNSSS
DSEAERRPPP RSESFRDKSR ESLEEAAKRQ DGGLFKGPPY PGYPFIMIPD LTSPYLPNGS
LSPTARTYLQ MKWPLLDVQA GSLQSRQALK DARSPSPAHI VSNKVPVVQH PHHVHPLTPL
ITYSNEHFTP GNPPPHLPAD VDPKTGIPRP PHPPDISPYY PLSPGTVGQI PHPLGWQGQP
VYPITTGGFR HPYPTALTVN ASMSRFPPHM VPPHHTLHTT GIPHPAIVTP TVKQESSQSD
VGSLHSSKHQ DSKKEEEKKK PHIKKPLNAF MLYMKEMRAK VVAECTLKES AAINQILGRR
WHALSREEQA KYYELARKER QLHMQLYPGW SARDNYGKKK KRKRDKQPGE TNEHSECFLN
PCLSLPPITD LSAPKKCRAR FGLDQQNNWC GPCSL*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

98 / 98

Last intron/exon boundary

1483

Theoretical NMD boundary in CDS

1335

Length of CDS

1368

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

48774

Chromosomal position

112999020

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

10:112999020G>T_10_ENST00000538897

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:112999020G>T (GRCh38)

Gene symbol

TCF7L2

Gene constraints

LOEUF: 0.38, LOF (oe): 0.24, misssense (oe): 0.71, synonymous (oe): 1.13 ? (gnomAD)

Ensembl transcript ID

ENST00000538897.5

Genbank transcript ID

NM_001363501 (by similarity), NM_001198531 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.450+34396G>T
g.48774G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4267006
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2507	19401	21908

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.184	0.001
	-0.724	0.001
(flanking)	0.308	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

1

Original gDNA sequence snippet

AGACTTTCCTATTAAAAAAAGTATTTTATTTTTCAGAGACA

Altered gDNA sequence snippet

AGACTTTCCTATTAAAAAAATTATTTTATTTTTCAGAGACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPQLNGGGGD DLGANDELIS FKDEGEQEEK SSENSSAERD LADVKSSLVN ESETNQNSSS
DSEAERRPPP RSESFRDKSR ESLEEAAKRQ DGGLFKGPPY PGYPFIMIPD LTSPYLPNGS
LSPTARTLHF QSGSTHYSAY KTIEHQIAVQ YLQMKWPLLD VQAGSLQSRQ ALKDARSPSP
AHIVSNKVPV VQHPHHVHPL TPLITYSNEH FTPGNPPPHL PADVDPKTGI PRPPHPPDIS
PYYPLSPGTV GQIPHPLGWL VPQQGQPVYP ITTGGFRHPY PTALTVNASM SRFPPHMVPP
HHTLHTTGIP HPAIVTPTVK QESSQSDVGS LHSSKHQDSK KEEEKKKPHI KKPLNAFMLY
MKEMRAKVVA ECTLKESAAI NQILGRRWHA LSREEQAKYY ELARKERQLH MQLYPGWSAR
DNYGKKKKRK RDKQPGETNE HSECFLNPCL SLPPITGEKK SAFATYKVKA AASAHPLQME
AY*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

508 / 508

Last intron/exon boundary

1876

Theoretical NMD boundary in CDS

1318

Length of CDS

1449

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

48774

Chromosomal position

112999020

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

10:112999020G>T_11_ENST00000355717

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:112999020G>T (GRCh38)

Gene symbol

TCF7L2

Gene constraints

LOEUF: 0.36, LOF (oe): 0.23, misssense (oe): 0.75, synonymous (oe): 1.18 ? (gnomAD)

Ensembl transcript ID

ENST00000355717.9

Genbank transcript ID

NM_001146283 (by similarity), NM_001146286 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.382-41005G>T
g.48774G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4267006
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2507	19401	21908

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.184	0.001
	-0.724	0.001
(flanking)	0.308	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

1

Original gDNA sequence snippet

AGACTTTCCTATTAAAAAAAGTATTTTATTTTTCAGAGACA

Altered gDNA sequence snippet

AGACTTTCCTATTAAAAAAATTATTTTATTTTTCAGAGACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPQLNGGGGD DLGANDELIS FKDEGEQEEK SSENSSAERD LADVKSSLVN ESETNQNSSS
DSEAERRPPP RSESFRDKSR ESLEEAAKRQ DGGLFKGPPY PGYPFIMIPD LTSPYLPNGS
LSPTARTYLQ MKWPLLDVQA GSLQSRQALK DARSPSPAHI VSPLPCCTQG HDCQHFYPPS
DFTVSTQVFR DMKRSHSLQK VGEPWCIESN KVPVVQHPHH VHPLTPLITY SNEHFTPGNP
PPHLPADVDP KTGIPRPPHP PDISPYYPLS PGTVGQIPHP LGWLVPQQGQ PVYPITTGGF
RHPYPTALTV NASMSRFPPH MVPPHHTLHT TGIPHPAIVT PTVKQESSQS DVGSLHSSKH
QDSKKEEEKK KPHIKKPLNA FMLYMKEMRA KVVAECTLKE SAAINQILGR RWHALSREEQ
AKYYELARKE RQLHMQLYPG WSARDNYGKK KKRKRDKQPG ETNGEKKSAF ATYKVKAAAS
AHPLQMEAY*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

172 / 172

Last intron/exon boundary

1561

Theoretical NMD boundary in CDS

1339

Length of CDS

1470

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

48774

Chromosomal position

112999020

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

10:112999020G>T_12_ENST00000629706

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:112999020G>T (GRCh38)

Gene symbol

TCF7L2

Gene constraints

LOEUF: 0.38, LOF (oe): 0.25, misssense (oe): 0.85, synonymous (oe): 1.27 ? (gnomAD)

Ensembl transcript ID

ENST00000629706.2

Genbank transcript ID

NM_001198526 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.382-41005G>T
g.48774G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs4267006
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	2507	19401	21908

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.184	0.001
	-0.724	0.001
(flanking)	0.308	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

10

Strand

1

Original gDNA sequence snippet

AGACTTTCCTATTAAAAAAAGTATTTTATTTTTCAGAGACA

Altered gDNA sequence snippet

AGACTTTCCTATTAAAAAAATTATTTTATTTTTCAGAGACA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPQLNGGGGD DLGANDELIS FKDEGEQEEK SSENSSAERD LADVKSSLVN ESETNQNSSS
DSEAERRPPP RSESFRDKSR ESLEEAAKRQ DGGLFKGPPY PGYPFIMIPD LTSPYLPNGS
LSPTARTYLQ MKWPLLDVQA GSLQSRQALK DARSPSPAHI VSNKVPVVQH PHHVHPLTPL
ITYSNEHFTP GNPPPHLPAD VDPKTGIPRP PHPPDISPYY PLSPGTVGQI PHPLGWLVPQ
QGQPVYPITT GGFRHPYPTA LTVNASMSSF LSSRFPPHMV PPHHTLHTTG IPHPAIVTPT
VKQESSQSDV GSLHSSKHQD SKKEEEKKKP HIKKPLNAFM LYMKEMRAKV VAECTLKESA
AINQILGRRW HALSREEQAK YYELARKERQ LHMQLYPGWS ARDNYGKKKK RKRDKQPGET
NDANTPKKCR ALFGLDRQTL WCKPCRRKKK CVRYIQGEGS CLSPPSSDGS LLDSPPPSPN
LLGSPPRDAK SQTEQTQPLS LSLKPDPLAH LSMMPPPPAL LLAEATHKAS ALCPNGALDL
PPAALQPAAP SSSIAQPSTS SLHSHSSLAG TQPQPLSLVT KSLE*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

1337

Theoretical NMD boundary in CDS

1286

Length of CDS

1755

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

48774

Chromosomal position

112999020

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table